Incidental Mutation 'IGL00963:Sept4'
ID28606
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sept4
Ensembl Gene ENSMUSG00000020486
Gene Nameseptin 4
Synonymscell division control-related protein 2b, ARTS, Pnutl2, septin H5, Bh5
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.753) question?
Stock #IGL00963
Quality Score
Status
Chromosome11
Chromosomal Location87568903-87590539 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 87583373 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Methionine at position 29 (K29M)
Ref Sequence ENSEMBL: ENSMUSP00000115790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018544] [ENSMUST00000063156] [ENSMUST00000107960] [ENSMUST00000107961] [ENSMUST00000107962] [ENSMUST00000122067] [ENSMUST00000122945] [ENSMUST00000133202]
Predicted Effect possibly damaging
Transcript: ENSMUST00000018544
AA Change: K39M

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000018544
Gene: ENSMUSG00000020486
AA Change: K39M

DomainStartEndE-ValueType
low complexity region 94 108 N/A INTRINSIC
Pfam:Septin 141 421 1.8e-130 PFAM
Pfam:MMR_HSR1 146 290 1.3e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000063156
SMART Domains Protein: ENSMUSP00000060127
Gene: ENSMUSG00000020486

DomainStartEndE-ValueType
Pfam:DUF258 26 142 7.5e-7 PFAM
Pfam:Septin 42 322 7.5e-131 PFAM
Pfam:MMR_HSR1 47 211 5.4e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107960
AA Change: K39M

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103594
Gene: ENSMUSG00000020486
AA Change: K39M

DomainStartEndE-ValueType
low complexity region 94 108 N/A INTRINSIC
Pfam:Septin 141 421 1.1e-130 PFAM
Pfam:MMR_HSR1 146 293 7.3e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107961
SMART Domains Protein: ENSMUSP00000103595
Gene: ENSMUSG00000020486

DomainStartEndE-ValueType
Pfam:DUF258 19 135 1e-7 PFAM
Pfam:Septin 35 232 1.9e-89 PFAM
Pfam:MMR_HSR1 40 204 1.2e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107962
AA Change: K20M

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103596
Gene: ENSMUSG00000020486
AA Change: K20M

DomainStartEndE-ValueType
low complexity region 75 89 N/A INTRINSIC
Pfam:Septin 122 402 1.3e-130 PFAM
Pfam:MMR_HSR1 127 273 8.3e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122067
SMART Domains Protein: ENSMUSP00000112960
Gene: ENSMUSG00000020486

DomainStartEndE-ValueType
Pfam:DUF258 8 124 5.3e-7 PFAM
Pfam:Septin 23 303 3.9e-131 PFAM
Pfam:MMR_HSR1 28 172 4e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000122945
AA Change: K32M

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115682
Gene: ENSMUSG00000020486
AA Change: K32M

DomainStartEndE-ValueType
low complexity region 87 101 N/A INTRINSIC
Pfam:DUF258 116 212 2.4e-7 PFAM
Pfam:Septin 134 213 9.1e-31 PFAM
Pfam:MMR_HSR1 139 213 5.5e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132723
Predicted Effect possibly damaging
Transcript: ENSMUST00000133202
AA Change: K29M

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115790
Gene: ENSMUSG00000020486
AA Change: K29M

DomainStartEndE-ValueType
low complexity region 84 98 N/A INTRINSIC
Pfam:DUF258 114 232 1.4e-7 PFAM
Pfam:Septin 131 280 1.2e-72 PFAM
Pfam:MMR_HSR1 136 279 2.2e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136229
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140398
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148216
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous null males are sterile and have immotile and structurally defective sperm that is bent and lacks the annulus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI606181 A C 19: 41,593,789 probably benign Het
Alyref2 C T 1: 171,504,248 Q198* probably null Het
Ankrd13a T C 5: 114,801,802 S497P probably damaging Het
Chd5 C A 4: 152,382,938 N1644K probably damaging Het
Col13a1 T C 10: 61,838,697 probably benign Het
Ctnna3 T A 10: 64,945,949 D730E probably damaging Het
Dock11 A G X: 36,032,382 Q1197R possibly damaging Het
Drosha T A 15: 12,925,997 I1224N probably damaging Het
Dsc1 T C 18: 20,111,986 K42R probably null Het
Engase A G 11: 118,482,998 D322G probably damaging Het
Ephb2 T C 4: 136,658,951 D829G probably benign Het
Fgfr2 C T 7: 130,228,761 M47I probably damaging Het
Gad1-ps G T 10: 99,445,448 noncoding transcript Het
Gatb A G 3: 85,618,948 S378G probably benign Het
Hivep2 G A 10: 14,129,347 S563N probably damaging Het
Irs2 G A 8: 11,005,867 A855V probably benign Het
Jagn1 T C 6: 113,447,475 S103P probably damaging Het
Kdm6a T A X: 18,246,426 probably benign Het
Lmcd1 T C 6: 112,329,934 C356R probably damaging Het
Mefv T A 16: 3,715,720 Y229F possibly damaging Het
Myef2 T C 2: 125,115,475 Y120C probably damaging Het
Myo9a T G 9: 59,900,372 I2074S probably damaging Het
Nhs A G X: 161,847,049 S337P probably damaging Het
Nphp4 T G 4: 152,537,861 H566Q probably benign Het
Olfr618 T A 7: 103,597,637 probably null Het
Olfr715 A T 7: 107,129,065 C109* probably null Het
Pabpc2 C A 18: 39,775,337 Q552K possibly damaging Het
Podn T A 4: 108,022,174 N104I probably damaging Het
Rit1 T C 3: 88,726,431 V94A probably damaging Het
Scn7a A T 2: 66,703,945 probably benign Het
Sowahb T C 5: 93,044,011 Y283C probably damaging Het
Srbd1 A T 17: 86,115,209 W460R probably damaging Het
Svep1 T A 4: 58,072,791 K2173* probably null Het
Tlr6 T C 5: 64,954,676 N296S possibly damaging Het
Trpm8 A G 1: 88,379,827 D1073G possibly damaging Het
Ttc28 A T 5: 111,286,389 K2399* probably null Het
Ttn A G 2: 76,887,283 probably benign Het
Uroc1 C T 6: 90,338,828 T189I probably benign Het
Usp18 C T 6: 121,255,382 Q122* probably null Het
Zfp420 T C 7: 29,875,093 I246T probably damaging Het
Zfp644 T C 5: 106,638,637 probably null Het
Zfp871 A T 17: 32,774,752 V483E probably benign Het
Other mutations in Sept4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Sept4 APN 11 87589773 missense probably damaging 1.00
IGL03087:Sept4 APN 11 87585245 splice site probably benign
IGL03268:Sept4 APN 11 87589703 missense probably damaging 0.99
R0077:Sept4 UTSW 11 87581196 missense probably benign
R1729:Sept4 UTSW 11 87583436 missense probably benign 0.26
R1730:Sept4 UTSW 11 87583436 missense probably benign 0.26
R1739:Sept4 UTSW 11 87583436 missense probably benign 0.26
R1762:Sept4 UTSW 11 87583436 missense probably benign 0.26
R1783:Sept4 UTSW 11 87583436 missense probably benign 0.26
R1784:Sept4 UTSW 11 87583436 missense probably benign 0.26
R1785:Sept4 UTSW 11 87583436 missense probably benign 0.26
R1957:Sept4 UTSW 11 87590367 missense probably benign 0.02
R2131:Sept4 UTSW 11 87583436 missense probably benign 0.26
R2133:Sept4 UTSW 11 87583436 missense probably benign 0.26
R2140:Sept4 UTSW 11 87583436 missense probably benign 0.26
R2141:Sept4 UTSW 11 87583436 missense probably benign 0.26
R2252:Sept4 UTSW 11 87589811 missense possibly damaging 0.75
R3696:Sept4 UTSW 11 87585234 missense possibly damaging 0.48
R4018:Sept4 UTSW 11 87585121 missense probably damaging 1.00
R4193:Sept4 UTSW 11 87583316 critical splice acceptor site probably null
R4196:Sept4 UTSW 11 87588772 missense probably damaging 0.96
R5012:Sept4 UTSW 11 87584404 missense possibly damaging 0.78
R5149:Sept4 UTSW 11 87589245 missense probably damaging 1.00
R5891:Sept4 UTSW 11 87588924 unclassified probably benign
R6090:Sept4 UTSW 11 87589517 missense possibly damaging 0.48
R6145:Sept4 UTSW 11 87585246 splice site probably null
R6257:Sept4 UTSW 11 87590349 missense probably benign 0.07
R6704:Sept4 UTSW 11 87589030 missense probably damaging 1.00
R7064:Sept4 UTSW 11 87590367 missense probably benign 0.02
R7090:Sept4 UTSW 11 87584438 missense probably damaging 1.00
R7784:Sept4 UTSW 11 87579008 missense probably benign
R7790:Sept4 UTSW 11 87589239 missense probably damaging 1.00
Posted On2013-04-17